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The molecular pathogenesis of Schmid metaphyseal chondrodysplasia


, : The molecular pathogenesis of Schmid metaphyseal chondrodysplasia. Genetics in Medicine 2(1): 86, January-February


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Szaufer, M.; Kowalewski, Z.; Phillipson, J.D., 1978: Chelidonine from symphoricarpos albus. The major alkaloid of the aerial parts of S. albus, cultivated in Poland, was identified as chelidonine. This is the 1st alkaloid identified from Symphoricarpos and a new alkaloid for the Caprifoliaceae. The small chelidonine yields do not account...

Frye, B.C.; Schupp, J.C.; Köhler, T.L.; Müller-Quernheim, J., 2016: Diagnosis and treatment of sarcoidosis. Current standards. Sarcoidosis is a granulomatous disease that mainly affects the lungs and intrathoracic lymph nodes; however, virtually any organ can be affected. As an orphan disease, recommendations are mainly based on observational or small randomized studies a...

Tazza, G.; Tazza, R.; Valentini, M.; Leoni, G.; Avenia, N.; Ragusa, M., 1991: Picotamide: use in chronic obliterative arteriopathies of the lower limbs. In the present study the authors evaluated treatment efficiency and patient compliance of medium-term therapy with Picotamide, given in doses of 900 mg/die for the first 15 days, and 600 mg/die up to the completion of a three-month period, to 50 p...

Kalita, J.; Bhoi, S.K.; Misra, U.K., 2016: Effect of high rate rTMS on somatosensory evoked potential in migraine. Sensitization and impaired habituation of cortical neurons have been reported in migraineurs. Repetitive transcranial magnetic stimulation (rTMS) may change these phenomena and be the basis of therapeutic response. We report the effect of 10 Hz...

Metlitskii, L.V.; Rubin, B.A.; Krushchev, V.G., 1958: Lengthening the storage period of potatoes by gamma-radiation Study of animal organism. The effect of -radiation on the metabolism of tuber tissues was studied. A slow-down of deoxyribonucleic-acid (DNA) synthesis and its transformation to ribonucleic-acid (RNA) occurred in the growth-centers, cell-division was inhibited; after 40 da...

Escobar-Bravo, Río.; Alba, J.M.; Pons, C.; Granell, A.; Kant, M.R.; Moriones, E.; Fernández-Muñoz, R., 2016: A Jasmonate-Inducible Defense Trait Transferred from Wild into Cultivated Tomato Establishes Increased Whitefly Resistance and Reduced Viral Disease Incidence. NlmCategory="UNASSIGNED">Whiteflies damage tomatoes mostly via the viruses they transmit. Cultivated tomatoes lack many of the resistances of their wild relatives. In order to increase protection to its major pest, the whitefly <i&...

Parmala, M.E., 1957: Simple method of sterilization by pressure cooker. Suomen Laakarilehti. Finlands Lakartidning 12(8): 435-438

Sanchez-Lopez, E.; Rodriguez-Vita, J.; Cartier, C.; Ruperez, M.; Esteban, V.; Carvajal, G.; Rodrigues-Diez, R.; Plaza, J.-Jose; Egido, J.; Ruiz-Ortega, M., 2008: Inhibitory effect of interleukin-1 beta on angiotensin II-induced connective tissue growth factor and type IV collagen production in cultured mesangial cells. Connective tissue growth factor (CTGF) is overexpressed in kidney diseases associated with extracellular matrix accumulation. Angiotensin II (ANG II) participates in renal fibrosis by the upregulation of growth factors, including CTGF, and extrace...

Lang, F.; Oettl, I.; Haussinger, D., 1993: Influence of hepatic innervation on renal glomerular filtration rate. Electrical stimulation of perivascular portal nerves leads to rapid, transient increase of renal glomerular filtration rate (GFR) and of urinary flow rate ( ovrhdot V). In contrast, perivascular stimulation at the vena cava inferior does not signi...

Itai Y., 1980: Computed tomography of biliary diseases. Gastroenterologia Japonica: 272